Analysis Of Whole Exome Sequencing In 330 Children With Suspected Genetic Diseases

Objective: To explore the clinical diagnostic value of whole exome sequencing detection in genetic diseases.Methods: From January 2016 to December 2018,330 patients with whole exome sequencing of genetic diseases from different regions in Xinjiang were selected.According to the clinical data of the patients,the patients' phenotypes were classified according to human phenotypic ontology(HPO),and the data of their genetic test results were analyzed.Results: Of the 330 cases,179 cases(54.2%)were male and 151 cases(45.8%)were female.Most of the 330 cases had neurological abnormalities(130 cases,39.4%),Secondly,189 cases(57.3%)had abnormal skeletal system.Of the 330 patients receiving clinical WES,196 tested positive(59.4%).A total of135 cases(40.9%)were definitely diagnosed with molecular diagnosis.The 135 molecular diagnosis patterns of Mendelian disease included autosomal dominant inheritance36(26.7%),autosomal recessive inheritance 68(50.4%),and X chromosome genetic related diseases(n= 10 7.4%).In the results we found new mutations in 36 cases(26.7%),homozygous mutations in 47 cases(34.8%),high proportion,the uighurs in 37 cases(78.7%),kazak,3 cases(6.4%),kirgiz,1 case(2.1%),the han nationality,6 cases(12.8%),7 cases of patients parents have incest,are ethnic minorities,5 cases of uighurs.Congenital apolipoprotein a deficiency,Mosaic heterochromatic aneuploidy syndrome,delange syndrome,Ellis-van Creveld syndrome and Kabuki syndrome were diagnosed.Conclusion: Whole exome sequencing provided potential molecular diagnosis for 40.9% of patients,improved the OMIM database for the clinical symptom description of some rare diseases and increased the clinical symptom types of rare diseases.